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UniProtKB/Swiss-Prot Q9ULP9: Variant p.Ala515Val

TBC1 domain family member 24
Gene: TBC1D24
Variant information

Variant position:  515
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Alanine (A) to Valine (V) at position 515 (A515V, p.Ala515Val).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from small size and hydrophobic (A) to medium size and hydrophobic (V)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In FIME; does not affect the interaction with ARF6; fails to induce neurite overgrowth when overexpressed in primary cortical neurons.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  515
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  559
The length of the canonical sequence.

Location on the sequence:   ESMFMAGGSDCLIVGGGGGQ  A LYIDGDLNRGRTSHCDTFNN
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         ESMFMAGGSDCLIVGGGGGQALYIDGDLNRGRTSHCDTFNN

Mouse                         ESMFMAGGNDCLIIGGGGGQALYVDGDLNRGRTGHCDTFNN

Bovine                        ESLFMAGGSDCLIIG-------HVAGD--------------

Xenopus laevis                ASMFMAGSIDCIIIGGGDGQALYLDPDLNYGRTSHCNTFNN

Xenopus tropicalis            ASMFMAGSTDCIIIGGGDGQALYFDSDLNYGRTSHCNTFNN

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

TypePositionsDescription
Chain 1 – 559 TBC1 domain family member 24
Domain 343 – 554 TLDc


Literature citations

TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
Falace A.; Filipello F.; La Padula V.; Vanni N.; Madia F.; De Pietri Tonelli D.; de Falco F.A.; Striano P.; Dagna Bricarelli F.; Minetti C.; Benfenati F.; Fassio A.; Zara F.;
Am. J. Hum. Genet. 87:365-370(2010)
Cited for: FUNCTION; TISSUE SPECIFICITY; SUBCELLULAR LOCATION; INTERACTION WITH ARF6; VARIANTS FIME HIS-147 AND VAL-515; CHARACTERIZATION OF VARIANTS FIME HIS-147 AND VAL-515;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.